Metformin treatment in young children with fragile X syndrome

Hazel Maridith B. Biag, Laura A. Potter, Victoria Wilkins, Sumra Afzal, Alexis Rosvall, Maria Jimena Salcedo-Arellano, Akash Rajaratnam, Ramiro Manzano-Nunez, Andrea Schneider, Flora Tassone, Susan M. Rivera, Randi J. Hagerman

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Background: Metformin is a drug commonly used in individuals with type 2 diabetes, obesity, and impaired glucose tolerance. It has a strong safety profile in both children and adults. Studies utilizing the Drosophila model and knock out mouse model of fragile X syndrome (FXS) have found metformin to rescue memory, social novelty deficits, and neuroanatomical abnormalities. These studies provided preliminary evidence that metformin could be used as a targeted treatment for the cognitive and behavioral problems associated with FXS. Previously, a case series of children and adults with FXS treated with metformin demonstrated improvements in irritability, social responsiveness, language, and hyperactivity. Methods: Here, we present nine children with FXS between 2 and 7 years of age who were treated clinically with metformin and monitored for behavioral and metabolic changes. Results: Parent reports and developmental testing before and after metformin are presented. There were improvements in language development and behavior (such as lethargy and stereotypy) in most of the patients. Conclusion: These results support the need for a controlled trial of metformin in children with FXS under 7 years old whose brains are in a critical developmental window and thus may experience a greater degree of clinical benefit from metformin.

Original languageEnglish (US)
Article numbere956
JournalMolecular Genetics and Genomic Medicine
Issue number11
StatePublished - Nov 1 2019


  • FMR1
  • fragile X syndrome
  • metformin
  • targeted treatments
  • translational medicine

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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